An Unusual Presentation of Peutz-Jeghers Syndrome: Recurrent Intussusception in a 13-Year-Old Female: A Case Report

Author(s): Roshjo Roshan Attokaran1 , Ravindran Chirukandath2 , Harikumar V. 3 , Revathy Prasanna Kumar4 , Bobby Sebastian5

Peutz Jeghers syndrome an autosomal dominant condition due to mutation in chromosome 19p13.3 can present with intestinal hamartomatous polyps. Typically, they present with hyperpigmented macules in the mucosa. We present a case of a 13-year-old girl who presented in emergency department with recurrent right sided abdominal pain and tenderness, vomiting, and a palpable mass. Patient has a significant positive family history of hyperpigmented macules. Patient was evaluated with contrast enhanced CT scan and was found to have ileo-ileal intussusception and a gastric fundic polyp. Patient underwent emergency laparotomy and was found to have Jejunojejunal intussusception with polyp at lead point.